Partial duplications of the MSH2 and MLH1 genes in hereditary nonpolyposis colorectal cancer

@article{BaertDesurmont2007PartialDO,
  title={Partial duplications of the MSH2 and MLH1 genes in hereditary nonpolyposis colorectal cancer},
  author={St{\'e}phanie Baert-Desurmont and Marie-Pierre Buisine and Emilie Bessenay and Stephanie Frerot and Tonio Lovecchio and Cosette Martin and Sylviane Olschwang and Qing Wang and Thierry 11 Fr{\'e}bourg},
  journal={European Journal of Human Genetics},
  year={2007},
  volume={15},
  pages={383-386}
}
Numerous reports have highlighted the contribution of MSH2 and MLH1 genomic deletions to hereditary nonpolyposis colorectal cancer (HNPCC) or Lynch's syndrome, but genomic duplications of these genes have been rarely reported. Using quantitative multiplex PCR of short fluorescent fragments (QMPSF), 962 and 611 index cases were, respectively, screened for MSH2 and MLH1 genomic rearrangements. This allowed us to detect, in 11 families, seven MSH2 duplications affecting exons 1–2–3, exons 4–5–6… CONTINUE READING